ClinVar for Gene (Select 2940) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283005	NM_000847.5(GSTA3):c.49G>A (p.Glu17Lys)	GSTA3 (E17K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283003	NM_000847.5(GSTA3):c.197T>C (p.Val66Ala)	GSTA3 (V66A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102956	NM_000847.5(GSTA3):c.615G>C (p.Lys205Asn)	GSTA3 (K205N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102954	NM_000847.5(GSTA3):c.376G>C (p.Glu126Gln)	GSTA3 (E126Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102953	NM_000847.5(GSTA3):c.280A>G (p.Met94Val)	GSTA3 (M44V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102952	NM_000847.5(GSTA3):c.177G>C (p.Glu59Asp)	GSTA3 (E59D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102951	NM_000847.5(GSTA3):c.122T>C (p.Leu41Ser)	GSTA3 (L41S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685203	GRCh37/hg19 6p12.3-12.1(chr6:50181657-55538355)x1	CILK1, EFHC1 +30 more	Copy number loss	not provided	GPathogenic
Select item 2613078	NM_000847.5(GSTA3):c.278A>G (p.Asp93Gly)	GSTA3 (D43G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465632	NM_000847.5(GSTA3):c.38G>A (p.Arg13Gln)	GSTA3 (R13Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376366	NM_000847.5(GSTA3):c.477C>A (p.Ser159Arg)	GSTA3 (S109R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361914	NM_000847.5(GSTA3):c.481G>A (p.Val161Met)	GSTA3 (V111M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295393	NM_000847.5(GSTA3):c.371T>C (p.Ile124Thr)	GSTA3 (I124T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289503	NM_000847.5(GSTA3):c.431G>A (p.Gly144Glu)	GSTA3 (G94E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280056	NM_000847.5(GSTA3):c.389G>T (p.Ser130Ile)	GSTA3 (S80I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256268	NM_000847.5(GSTA3):c.275T>C (p.Ile92Thr)	GSTA3 (I42T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1042479	NC_000006.11:g.(?_51930764)_(52906034_?)del	CILK1, EFHC1 +15 more	Deletion	not provided	GUncertain significance
Select item 983177	GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1	TFAP2D, TINAG +43 more	Copy number loss	See cases	GLikely pathogenic
Select item 979547	GRCh37/hg19 6p12.2-12.1(chr6:52657712-53622715)x3	CILK1, ELOVL5 +9 more	Copy number gain	not provided	GUncertain significance
Select item 979546	GRCh37/hg19 6p12.2(chr6:52653495-52860229)x3	GSTA5, GSTA1 +2 more	Copy number gain	not provided	GLikely benign
Select item 774447	NM_000847.5(GSTA3):c.217A>G (p.Asn73Asp)	GSTA3 (N73D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 728744	NM_000847.5(GSTA3):c.605G>C (p.Ser202Thr)	GSTA3 (S202T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 725541	NM_000847.5(GSTA3):c.622G>A (p.Ala208Thr)	GSTA3 (A158T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	GSTA3, GSTA4 +228 more	Copy number loss	See cases	GPathogenic
Select item 147999	GRCh38/hg38 6p12.3-12.1(chr6:51093754-53859634)x4	CILK1, EFHC1 +119 more	Copy number gain	See cases	GPathogenic
Select item 145584	GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1	BAG2, BEND6 +171 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 30